Transcript Nick Meade.ppsx - Health in Wales

Patients’ expectations from
genomic applications
Nick Meade
Director of Policy
Genetic Alliance UK
Local Networks, Workshop One, 7th October 2014
Genetic Alliance UK
Who are we?
Genetic Alliance UK is the national charity working to
improve the lives of patients and families affected by all
types of genetic conditions. We are an alliance of over
180 patient organisations.
Our aim is to ensure that high quality services, information
and support are provided to all who need them. We
actively support research and innovation across the field of
genetic medicine.
Genetic Alliance UK
We are our members… more than 180 of them
• Wide variety of patient organisations supporting families
affected by genetic conditions.
• Large to small – British Heart Foundation to Costello Kids.
• Research funders, support groups, and those that do both.
• Conditions on which research occurs, and “neglected”
conditions.
• Not just single gene disorders.
Genetic Alliance UK
We are our members… more than 180 of them
Genetic Alliance UK
How many genetic conditions are there?
Genetic conditions
Number of Entries in OMIM
www.omim.org
Year
* Gene description
# Phenotype description, molecular basis
known
% Phenotype description or locus, molecular
basis unknown
Other, mainly phenotypes with suspected
mendelian basis
Total phenotypes
2012
2014
14,031
14,745
3,583
4,278
1,767
1,681
1,901
1,847
7,251
7,806
Genetic Alliance UK
…and how many treatments are available?
Cures and treatments for genetic conditions
• Bone marrow transplant
• Clotting factors
• Enzyme replacement therapies
• Further handful of innovative therapies
 Ivacaftor, alipogene tiparvovec
• Implantable cardioverter defibrillators?
Genetic Alliance UK
Shared perspective of our members
• Genetic conditions comprise an enormous burden
of unmet need
Therefore:
• A need for research and innovation
• A need for this to happen in the UK and Europe
• A need for all promising avenues of research to
be fully investigated
Patients’ expectations from genomic applications
The spectrum of patient views
Experience of patients is highly variable
• Patient with hypertension
• Patient with long QT syndrome
• Parent of child born with
Duchenne muscular dystrophy
CONSUMER
PATIENT
Patients’ expectations from genomic applications
The spectrum of patient views
Significant unmet need informs patients’ attitudes:
• Risk threshold in medicines and
interventions
• Attitude to risk in research
• Risks to privacy
• Approach to new technologies
Supporting families of children with
undiagnosed genetic conditions
Why is a diagnosis important?
Sense of what the future holds Will they walk? Talk? What
will their life expectancy be?
Being taken seriously “I want an answer to stop the ‘maybe he
will grow out of it’ comments.
Will future children be affected? “I want another
child but without any answers it seems like
suchan
a gamble.”
“I need
answer (if at all possible) and I also
want to be able to tell other people the cause
Access to services “I had to almost beg
and stop the ‘he’s just slow’ / ‘he’s a boy’/ ‘he’ll
for hospice place - no diagnosis so
catch up’/ ‘he’ll grow out of it’/ comments.”
no prognosis, and this is despite the
amount of times he's been
resuscitated”
Patients’ expectations from genomic applications
Improved diagnosis
• Diagnosis of conditions that we cannot currently
diagnose (RESEARCH)
• Faster diagnosis: shorten the diagnostic odyssey
• More detailed diagnoses (RESEARCH)
Patients’ expectations from genomic applications
Improved diagnosis – at our end of the
spectrum
• Patients and families instinctively want as much
information as they can get
• Our community recognises the value of genetic
counselling to understand more about genomic
information
• Call for “new” conditions to be studied following
identification
Patients’ expectations from genomic applications
Improved treatments
• Pharmacogenomics
 Potentially important for all
 Particularly important in rare disease medicine
• Stratified medicines
 Most developed in oncology
 Developing in some cystic fibrosis
Patients’ expectations from genomic applications
Attitudes of other communities
• Care.data
• Big data
• Direct to consumer testing
Patients’ expectations from genomic applications
Conclusion
Genetic Alliance UK
Insert Charity Commission slide
Patients’ expectations from genomic applications
Conclusion
Patients’ expectations from genomic applications
Conclusion
Views vary according to health needs
Utility varies according to health needs
Our community will embrace this technology, and is
likely to put the NHS under strong pressure to keep
up.
Thank you!
Nick Meade
Director of Policy
020 7704 3141
[email protected]
Registered charity numbers: 1114195 and SC039299
Registered company number: 05772999
Genetic Alliance UK
Why do our members join us?
Diagnosis
Prevention
Health
Technology
Appraisal
Legal
Approval
Commissioning
Living with
a genetic
condition
Members,
Patients
and family
Research
and
innovation
Clinical
Research
Basic
Research
Day-to-day
Care
Translational
Research
Cures and
treatments
Policy interactions
Policy work
BASIC
RESEARCH
COMMISSIONING
TRANSLATIONAL CLINICAL
RESEARCH
RESEARCH
HTA
PRICING
MARKET
AUTHORISATION
Policy interactions
Controversial issues
•
•
•
•
•
•
•
•
•
Animal research
Embryo research
Cytoplasmic hybrid embryos
Preimplantation genetic diagnosis
Mitochondrial replacement therapy
Gene therapy
Stem cell therapy
Termination of pregnancy
Large scale use and sharing of genomic data?
Genetic Alliance UK
Policy Work
Rare Disease UK
Vision for the UK Rare Disease Strategy
•
•
•
•
Coordination of research
Prevention and diagnosis
Commissioning and planning
Patient Care, Information and
Support
• Delivering Coordinated Care
February 2011
Rare Disease UK
Actual UK Strategy for Rare Diseases
• The role of research
• Identifying and preventing rare
diseases
• Diagnosis and early intervention
• Empowering those affected by
rare diseases
• Coordination of care
November 2013
Rare Disease UK
UK Rare Disease Strategy
• Implementation phase.
• All four Governments will soon publish their commitments to
the strategy.
• UK Stakeholder Forum reconstituted, Alastair Kent is chair.
• Will hold UK Governments to account.
• We need to plan a way for patients to feed into this arena.